Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling-Reference-Cited by-同舟云学术

Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling

Published:2018-07-26 Issue:10 Volume:39 Page:1416-1427
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Roessler Erich¹,Hu Ping¹^ORCID,Marino Juliana²,Hong Sungkook¹,Hart Rachel¹,Berger Seth¹,Martinez Ariel¹,Abe Yu¹,Kruszka Paul¹,Thomas James W.³,Mullikin James C.³,Wang Yupeng⁴,Wong Wendy S.W.⁴,Niederhuber John E.⁴,Solomon Benjamin D.⁴⁵,Richieri-Costa Antônio⁶,Ribeiro-Bicudo L.A.⁷,Muenke Maximilian¹,

Affiliation:

1. Medical Genetics Branch; National Human Genome Research Institute; National Institutes of Health; Bethesda Maryland

2. São Paulo University; Bauru São Paulo Brazil

3. NIH Intramural Sequencing Center; NISC; National Human Genome Research Institute; National Institutes of Health; Bethesda Maryland

4. Inova Translational Medicine Institute; Virginia Commonwealth University School of Medicine; Falls Church Virginia

5. Presently the Managing Director; GeneDx; Gaithersburg Maryland

6. Hospital for the Rehabilitation of Craniofacial Anomalies; São Paulo University; São Paulo Brazil

7. Institute of Bioscience; Department of Genetics; Federal University of Goias; Goias Brazil

Funder

Division of Intramural Research

National Human Genome Research Institute

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23590/fullpdf

Reference89 articles.

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2. A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans;Arauz;Molecular Syndromology,2010

3. Making a commitment: Cell lineage allocation and axis patterning in the early mouse embryo;Arnold;Nature Reviews Molecular Cell Biology,2009

4. Mutations in CDON, Encoding a Hedgehog Receptor, Result in Holoprosencephaly and Defective Interactions with Other Hedgehog Receptors;Bae;The American Journal of Human Genetics,2011

5. The Zic2 gene directs the formation and function of node cilia to control cardiac situs;Barratt;Genesis,2014

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